A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5360383



Internal ID8452118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:78682618..78683012hg38UCSC Ensembl
Outerchr9:81297534..81297928hg19UCSC Ensembl
Outerchr9:80487354..80487748hg18UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg38927
hg19927
hg18927
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2438534
Supporting Variants
SamplesNA18507
Known Genes
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5360383
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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